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Mitochondrial Disease-associated ImmunoDeficiencies

ConditionMitochondrial Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age6+
SponsorUniversity Hospital, Bordeaux

About this trial

The study aims at characterizing the immune dysfunctions in patients with mitochondrial diseases. This has prognostic and diagnostic interest as well as potential for the discovery of new therapeutic strategies to alleviate disease burden.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

Patient weighing more than 30kg

Person affiliated with or receiving a social security plan;

Patient with molecularly proven primary mitochondrial disease

Free, informed, written consent signed by parental authority holders for minor patients and the investigator prior to any examination required by the research and oral and/or written assent by the participant (depending on age).

Disqualifiers

Pregnant or breastfeeding women

Refusal to consent to participate in research,

Patients for whom molecular causes have not been formally identified (genetic analyses not performed, or no variant or variant of unknown significance after analysis).

Trial population

* Patient cohort : Patient with moleculary proven mitochondrial disorder * Control cohort : People without moleculary proven mitochondrial disorder

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • Patient cohort

    Procedure/Surgery

    Collection of 6 blood tubes at the inclusion visit.

  • Control cohort

    Procedure/Surgery

    Collection of 6 blood tubes at the inclusion visit.

Treatment groups

60 Participants
are divided into 2 treatment groups
Group A: o Patient cohort0 interventions
Group B: o Control cohort0 interventions

Trial outcomes

Primary outcomes

1

Immunological parameters

Distribution of several quantitative immunological parameters at inclusion. The following parameters will be considered : Immunoglobulins in g/l (IgG subclasses, IgA, IgM)

Time frame
Inclusion visit
2

Immunological parameters

Distribution of several quantitative immunological parameters at inclusion. The following parameters will be considered : multiplex flow cytometry panels (Th1, Th2, Th17, Tfh, T, B, monocytes) in fluorescence intensity unit

Time frame
Inclusion visit

Secondary outcomes

1

Immunological parameters

Description of the percentage of patients with abnormal immunological parameters

Time frame
Inclusion visit
2

infectious events

Incidence of severe or recurrent infectious events retrospectively compared to the general population

Time frame
Inclusion visit
3

Biological markers

Description of the percentage of patients with abnormal key cytokines (TNF, IL-1b, IL-6, IL-12)

Time frame
Inclusion visit

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University Hospital, Bordeaux

Lead sponsor

Source ClinicalTrials.gov
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